The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

ABSTRACT:

Background

Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that females often develop the disease, data from Spain and other countries reported that females were undertreated. The aim of this study was to provide a wider and more recent description of the disease characteristics and associated management of females with a GLA variant in a Spanish cohort.

Results

Ninety-seven females from 12 hospitals were included in this retrospective study. Mean age was 50.1 ± 17.2 years. Median follow-up time from GLA variant identification was 36.1 months, and most (70.1%) were identified through family screening. Variants associated

SUBMITTER: Sanchez R 

PROVIDER: S-EPMC9830917 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature